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Ambulatory Proficiency Syndrome

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A 16-year-old girl was diagnosed with Pompe disease at the age of two. When she was four years old, muscle weakness gradually progressed. She was referred to our department in the diagnosis of scoliosis at the age of ten. At the first visit, the major thoracic curve scoliosis was 26˚ (T4-11) and an underarm brace was applied. However, her scoliosis could not be controlled with this brace. At the age of 16 years, she was 155 cm in height and 32 kg in weight. She complained respiratory discomfort in sitting position with a percent vital capacity (%VC) of 32.3% in the sitting position and 38.3% in the supine. Standing X-ray showed scoliosis of 82°at T4-11, and 52˚ at T11-L4, and supine X-ray showed at T4-11, at T11-L4, respectively. We considered that her respiratory discomfort in sitting position was caused by …show more content…
According to their assessment, it was necessary for her to swing her waist by using her weak abdominal and back muscles in order to walk. Therefore, it was a must to preserve the motion of her lumber spine to retain her ambulatory status. We underwent posterior selective spinal correction and fusion at T4-L1 using pedicle screws, hooks and sublaminar wiring. The operation time was 5 hours and 43 minutes, the intraoperative estimated blood loss was 400 ml. After surgery, her scoliosis was corrected to 29° at T4-11 and 30° at T11-L4, respectively. She was able to start rehabilitation from the next day after surgery and walk with one cane in two weeks. She was discharged in four weeks after surgery without any assistance to walk. Her respiratory discomfort was improved although her %VC was similar. One year and a half after surgery, her gait had been kept stable without any aid and she did not have respiratory discomfort. Standing X-ray did not show any collection loss, degeneration and implant failure. She had a high satisfaction level with her

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